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Results 1 - 7 of 7 for Nemaline myopathy 6
  1. Nemaline myopathy 
    ... Testing Registry: Nemaline myopathy 5 Genetic Testing Registry: Nemaline myopathy 6 Genetic Testing Registry: Nemaline myopathy 7 Genetic Testing ... RECESSIVE, SEVERE INFANTILE; NEM5A NEMALINE MYOPATHY 7; NEM7 NEMALINE MYOPATHY 6; NEM6 CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B CONGENITAL ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  2. ACTA1 gene 
    ... resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. Muscle Nerve. 2014 Dec;50(6):1011-6. doi: 10.1002/mus.24353. Epub ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  3. TPM2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Nemaline myopathy More About This Health Condition At least six TPM2 gene mutations have been identified in people ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  4. Intranuclear rod myopathy 
    ... J, Neuen-Jacob E, Mayatepek E, Voit T. Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). Neuropediatrics. 2007 Dec;38(6):282-6. doi: 10.1055/s-2008-1065356. ...
    https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy - Genetics
  5. Actin-accumulation myopathy 
    ... PubMed Schroder JM, Durling H, Laing N. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). Acta Neuropathol. 2004 Sep;108(3):250-6. doi: 10.1007/s00401-004-0888-1. Epub ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  6. Cap myopathy 
    ... tropomyosin gene TPM2. Neuromuscul Disord. 2007 Jun;17(6):433-42. doi: ... in TPM2-related nemaline and cap myopathy. Biochem J. 2012 Feb 15;442(1):231- ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  7. TPM3 gene 
    ... gene are also associated with a condition called nemaline myopathy. People with nemaline myopathy typically have muscle weakness throughout their body, including ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics